A Novel Nonsense Gene Variant Responsible for Early Infantile Epileptic Encephalopathy Type 39: Case Report

Early infantile epileptic encephalopathy (EIEE) is a severe form neurological disorder of age-related epileptic encephalopathy. Characteristically, it presents with tonic spasms within the first 3 months of life. The spasms can be generalized or focal and hemi-convulsions, it can be in clusters or singly which occur hundreds of times per day, not related to sleep cycle, leading to psychomotor impairment and death. Some cases of EIEE are due to metabolic disorders or brain malformations that may or not be genetic in origin. The genetic origin of EIEE are usually related to brain dysgenesis or neuronal dysfunction. Early infantile epileptic encephalopathy-39 (EIEE39) is a result of homozygous mutation in the SLC25A12 gene (603667) on chromosome 2q31. Here it was described a homozygous nonsense variant of the SLC25A12 gene in our 7 years old child, which was not reported in the literature so far.